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. 2022 Oct 13;13:1036088. doi: 10.3389/fendo.2022.1036088

Table 2.

CAU Characteristics of variants. CAUCASIAN.

CHROM LOCUS POS ID REF ALT A1 A1_CT ALLELE_CT A1_CASE_CT A1_CTRL_CT CASE_ALLELE_CT CTRL_ALLELE_CT CASE_NON_A1_CT CASE_HET_A1_CT CASE_HOM_A1_CT CTRL_NON_A1_CT CTRL_HET_A1_CT CTRL_HOM_A1_CT A1_FREQ A1_CASE_FREQ A1_CTRL_FREQ OBS_CT
1 MTHFR 11794419 rs1801131 T G G 630 2172 103 527 374 1798 95 81 11 437 397 65 0.290 0.275 0.293 1086
1 MTHFR 11796321 rs1801133 G A A 847 2204 157 690 376 1828 63 93 32 339 460 115 0.384 0.418 0.377 1102
1 PROX1 213985913 rs340874 T C T 1065 2206 185 880 376 1830 51 89 48 236 478 201 0.483 0.492 0.481 1103
1 LYPLAL1 219527177 rs2785980 T C C 717 2202 107 610 376 1826 96 77 15 396 424 93 0.326 0.285 0.334 1101
1 MTR 236885200 rs1805087 A G G 397 2204 54 343 378 1826 137 50 2 600 283 30 0.180 0.143 0.188 1102
2 DPYSL5 26930006 rs1371614 C T T 572 2204 111 461 378 1826 87 93 9 521 323 69 0.260 0.294 0.252 1102
2 GCKR 27518370 rs780094 T C T 1043 2208 153 890 378 1830 69 87 33 251 438 226 0.472 0.405 0.486 1104
2 MAP3K19 134998059 rs1530559 A G A 765 2202 139 626 374 1828 73 89 25 391 420 103 0.347 0.372 0.342 1101
2 RBMS1 160460949 rs6742799 A C C 389 2200 62 327 374 1826 130 52 5 618 263 32 0.177 0.166 0.179 1100
2 FIGN 163641436 rs2119289 C G C 284 2204 44 240 378 1826 149 36 4 686 214 13 0.129 0.116 0.131 1102
2 COBLL1 164694691 rs7607980 T C C 318 2204 41 277 378 1826 151 35 3 655 239 19 0.144 0.108 0.152 1102
2 G6PC2 168906638 rs560887 T C T 581 2208 88 493 378 1830 114 62 13 491 355 69 0.263 0.233 0.269 1104
2 G6PC2 168917561 rs563694 C A C 679 2194 110 569 378 1816 94 80 15 419 409 80 0.309 0.291 0.313 1097
2 IRS1 226203364 rs2943634 A C A 673 2176 112 561 374 1802 88 86 13 424 393 84 0.309 0.299 0.311 1088
2 IRS1 226795828 rs1801278 C T T 188 2206 39 149 376 1830 151 35 2 770 141 4 0.085 0.104 0.081 1103
3 PPARG 12348985 rs17036328 T C C 205 2208 31 174 378 1830 161 25 3 752 152 11 0.093 0.082 0.095 1104
3 PPARG 12351626 rs1801282 C G G 194 2208 29 165 378 1830 163 23 3 759 147 9 0.088 0.077 0.090 1104
3 UBE2E2 23413299 rs1496653 A G G 394 2208 62 332 378 1830 135 46 8 611 276 28 0.178 0.164 0.181 1104
3 AMT 49417897 rs11715915 C T T 713 2188 128 585 376 1812 83 82 23 422 383 101 0.326 0.340 0.323 1094
3 ADCY5 123346931 rs11708067 A G G 359 2192 70 289 376 1816 124 58 6 636 255 17 0.164 0.186 0.159 1096
3 SLC2A2 170999732 rs11920090 T A A 352 2204 57 295 376 1828 136 47 5 644 245 25 0.160 0.152 0.161 1102
3 IGF2BP2 185793899 rs4402960 G T T 695 2208 148 547 378 1830 68 94 27 441 401 73 0.315 0.392 0.299 1104
3 IGF2BP2 185795604 rs7651090 A G G 696 2208 147 549 378 1830 67 97 25 436 409 70 0.315 0.389 0.300 1104
3 ADIPOQ 186853103 rs2241766 T G G 400 2206 70 330 378 1828 126 56 7 608 282 24 0.181 0.185 0.181 1103
4 WFS1 6288259 rs4458523 T G T 825 2194 140 685 372 1822 73 86 27 361 415 135 0.376 0.376 0.376 1097
4 FAM13A 88820118 rs3822072 G A A 1065 2196 189 876 374 1822 43 99 45 230 486 195 0.485 0.505 0.481 1098
4 TET2 105160479 rs9884482 T C C 870 2196 142 728 374 1822 75 82 30 319 456 136 0.396 0.380 0.400 1098
4 PDGFC 156798972 rs4691380 C T T 827 2204 145 682 376 1828 69 93 26 353 440 121 0.375 0.386 0.373 1102
5 IRX1 4355595 rs17727202 T C C 165 2208 27 138 378 1830 162 27 0 779 134 2 0.075 0.071 0.075 1104
5 ANKRD55 56510924 rs459193 A G A 663 2208 105 558 378 1830 100 73 16 451 370 94 0.300 0.278 0.305 1104
5 ZBED3 77130042 rs7708285 G A G 658 2208 128 530 378 1830 84 82 23 460 380 75 0.298 0.339 0.290 1104
5 PCSK1 96207022 rs13179048 C A A 623 2208 99 524 378 1830 102 75 12 454 398 63 0.282 0.262 0.286 1104
5 PCSK1 96295001 rs17085593 C G G 637 2204 103 534 376 1828 99 75 14 443 408 63 0.289 0.274 0.292 1102
5 PCSK1 96393194 rs6235 C G G 565 2200 88 477 374 1826 107 72 8 481 387 45 0.257 0.235 0.261 1100
6 RRB1 7212967 rs17762454 C T T 615 2188 95 520 372 1816 102 73 11 462 372 74 0.281 0.255 0.286 1094
6 RREB1 7231610 rs9379084 G A A 332 2208 66 266 378 1830 130 52 7 668 228 19 0.150 0.175 0.145 1104
6 CDKAL1 20679478 rs7756992 A G G 549 2192 86 463 374 1818 108 72 7 503 349 57 0.250 0.230 0.255 1096
6 CDKAL1 20686765 rs9368222 C A A 522 2206 80 442 378 1828 115 68 6 523 340 51 0.237 0.212 0.242 1103
6 RSPO3 127131790 rs2745353 C T T 1075 2206 177 898 378 1828 52 97 40 240 450 224 0.487 0.468 0.491 1103
7 DGKB 15024684 rs2191349 G T G 987 2202 175 812 376 1826 56 89 43 286 442 185 0.448 0.465 0.445 1101
7 GCK 44189469 rs1799884 C T T 424 2208 77 347 378 1830 119 63 7 599 285 31 0.192 0.204 0.190 1104
7 GCK 44196069 rs4607517 G A A 409 2184 74 335 378 1806 120 64 5 597 277 29 0.187 0.196 0.185 1092
7 GRB10 50690548 rs933360 C T C 530 2196 91 439 374 1822 108 67 12 523 337 51 0.241 0.243 0.241 1098
7 GRB10 50723882 rs6943153 T C T 602 2184 102 500 372 1812 98 74 14 469 374 63 0.276 0.274 0.276 1092
7 HIP1 75546898 rs1167800 A G G 974 2208 156 818 378 1830 62 98 29 281 450 184 0.441 0.413 0.447 1104
8 PPP1R3B 9326086 rs4841132 A G A 135 2208 22 113 378 1830 167 22 0 809 99 7 0.061 0.058 0.062 1104
8 PPP1R3B 9330085 rs7004769 A G A 407 2204 63 344 378 1826 131 53 5 609 264 40 0.185 0.167 0.188 1102
8 ANK1 41651740 rs12549902 G A G 1025 2198 175 850 378 1820 54 95 40 238 494 178 0.466 0.463 0.467 1099
8 SLC30A8 117172544 rs13266634 C T T 581 2208 98 483 378 1830 104 72 13 485 377 53 0.263 0.259 0.264 1104
8 SLC30A8 117172786 rs3802177 G A A 567 2208 95 472 378 1830 106 71 12 490 378 47 0.257 0.251 0.258 1104
8 SLC30A8 117173494 rs11558471 A G G 601 2206 99 502 378 1828 103 73 13 466 394 54 0.272 0.262 0.275 1103
9 GLIS3 4287466 rs7041847 A G G 1034 2202 167 867 376 1826 63 83 42 245 469 199 0.470 0.444 0.475 1101
9 GLIS3 4289050 rs7034200 C A C 1092 2206 180 912 378 1828 60 78 51 225 466 223 0.495 0.476 0.499 1103
9 GLIS3 4293150 rs10814916 A C A 1043 2194 171 872 378 1816 63 81 45 234 476 198 0.475 0.452 0.480 1097
9 CDKN2B 22134095 rs10811661 T C C 423 2188 73 350 374 1814 122 57 8 592 280 35 0.193 0.195 0.193 1094
9 SARDH 133734024 rs573904 C T T 626 2206 120 506 378 1828 85 88 16 479 364 71 0.284 0.317 0.277 1103
10 CDC123 12265895 rs11257655 C T T 503 2208 93 410 378 1830 107 71 11 545 330 40 0.228 0.246 0.224 1104
10 CDC123 12286011 rs12779790 A G G 433 2208 78 355 378 1830 120 60 9 587 301 27 0.196 0.206 0.194 1104
10 CUBN 17114152 rs1801222 A G A 607 2198 114 493 376 1822 90 82 16 488 353 70 0.276 0.303 0.271 1099
10 HKDC1 69223185 rs4746822 C T C 968 2204 161 807 378 1826 60 97 32 276 467 170 0.439 0.426 0.442 1102
10 HHEX 92722319 rs7923866 C T T 783 2206 132 651 378 1828 75 96 18 374 429 111 0.355 0.349 0.356 1103
10 ADRA2A 111282335 rs10885122 T G T 292 2206 48 244 376 1830 144 40 4 687 212 16 0.132 0.128 0.133 1103
10 TCF7L2 112994312 rs34872471 T C C 759 2208 140 619 378 1830 72 94 23 394 423 98 0.344 0.370 0.338 1104
10 TCF7L2 112996282 rs4506565 A T T 819 2204 147 672 378 1826 68 95 26 356 442 115 0.372 0.389 0.368 1102
10 TCF7L2 112998590 rs7903146 C T T 774 2206 144 630 378 1828 73 88 28 387 424 103 0.351 0.381 0.345 1103
11 DUSP8 1675619 rs2334499 C T T 967 2180 172 795 376 1804 50 104 34 279 451 172 0.444 0.457 0.441 1090
11 KCNJ11 17387083 rs5215 C T C 772 2200 146 626 376 1824 66 98 24 396 406 110 0.351 0.388 0.343 1100
11 CRY2 45851540 rs11605924 A C C 1096 2208 178 918 378 1830 52 96 41 238 436 241 0.496 0.471 0.502 1104
11 MADD 47314769 rs7944584 A T T 711 2204 110 601 378 1826 92 84 13 412 401 100 0.323 0.291 0.329 1102
11 OR4S1 48311808 rs1483121 G A A 340 2204 53 287 378 1826 139 47 3 640 259 14 0.154 0.140 0.157 1102
11 FADS1 61804006 rs174550 T C C 675 2196 118 557 378 1818 88 84 17 432 397 80 0.307 0.312 0.306 1098
11 ARAP1 72721940 rs11603334 G A A 283 2208 43 240 378 1830 149 37 3 691 208 16 0.128 0.114 0.131 1104
11 MTNR1B 92940662 rs1387153 C T T 646 2206 136 510 378 1828 75 92 22 470 378 66 0.293 0.360 0.279 1103
11 MTNR1B 92965261 rs10830962 C G G 935 2196 180 755 374 1822 47 100 40 310 447 154 0.426 0.481 0.414 1098
11 MTNR1B 92975544 rs10830963 C G G 607 2204 132 475 378 1826 78 90 21 504 343 66 0.275 0.349 0.260 1102
12 GLS2 56471554 rs2657879 A G G 473 2206 83 390 378 1828 113 69 7 568 302 44 0.214 0.220 0.213 1103
12 IGF1 102481791 rs35767 A G A 346 2202 54 292 378 1824 139 46 4 650 232 30 0.157 0.143 0.160 1101
12 HNF1A 121022883 rs7957197 T A A 464 2200 71 393 376 1824 125 55 8 560 311 41 0.211 0.189 0.215 1100
12 P2RX2 132465032 rs10747083 G A G 769 2206 130 639 378 1828 87 74 28 373 443 98 0.349 0.344 0.350 1103
13 PDX1 27917061 rs2293941 G A A 534 2204 103 431 378 1826 97 81 11 538 319 56 0.242 0.272 0.236 1102
13 KL 32980164 rs576674 G A G 504 2192 83 421 376 1816 112 69 7 524 347 37 0.230 0.221 0.232 1096
14 WARS 100372924 rs3783347 G T T 383 2208 53 330 378 1830 141 43 5 609 282 24 0.173 0.140 0.180 1104
15 C2CD4A 62090956 rs4502156 T C C 1011 2202 174 837 378 1824 57 90 42 264 459 189 0.459 0.460 0.459 1101
15 C2CD4B 62141763 rs11071657 A G G 875 2208 156 719 378 1830 61 100 28 328 455 132 0.396 0.413 0.393 1104
16 FTO 53767042 rs1421085 T C C 914 2204 149 765 376 1828 65 97 26 303 457 154 0.415 0.396 0.418 1102
16 FTO 53782363 rs8050136 C A A 896 2194 154 742 376 1818 66 90 32 317 442 150 0.408 0.410 0.408 1097
16 CTRB2 75211105 rs9921586 G T T 281 2208 47 234 378 1830 143 45 1 693 210 12 0.127 0.124 0.128 1104
17 GLP2R 9888058 rs17676067 T C C 598 2206 120 478 376 1830 90 76 22 498 356 61 0.271 0.319 0.261 1103
17 HNF1B 37738049 rs4430796 A G A 1009 2206 169 840 378 1828 63 83 43 269 450 195 0.457 0.447 0.460 1103
19 CILP2 19547663 rs16996148 G T T 171 2208 26 145 378 1830 163 26 0 774 137 4 0.077 0.069 0.079 1104
19 PEPD 33408159 rs731839 G A G 762 2196 136 626 376 1820 75 90 23 383 428 99 0.347 0.362 0.344 1098
19 GIPR 45693376 rs2302593 C G G 1082 2198 188 894 378 1820 43 104 42 235 456 219 0.492 0.497 0.491 1099
20 FOXA2 22578963 rs6048205 A G G 110 2208 10 100 378 1830 179 10 0 819 92 4 0.050 0.026 0.055 1104
20 TOP1 41115265 rs6072275 G A A 336 2206 54 282 378 1828 138 48 3 654 238 22 0.152 0.143 0.154 1103
20 ZHX3 41203988 rs17265513 T C C 406 2204 68 338 378 1826 127 56 6 609 270 34 0.184 0.180 0.185 1102
20 SLC17A9 62967547 rs3746750 A G A 759 2200 111 648 376 1824 94 77 17 362 452 98 0.345 0.295 0.355 1100
21 BACE2 41209710 rs737288 G T T 773 2188 130 643 374 1814 74 96 17 373 425 109 0.353 0.348 0.354 1094
21 BACE2 41211811 rs6517656 G A A 458 2208 78 380 378 1830 118 64 7 573 304 38 0.207 0.206 0.208 1104

Main characteristics of the variants for the Caucasian (CAU) ethnicity.

CHROM, Chromosome code; LOCUS, Locus/Gene; POS, Base-pair coordinate [GRCh38]; ID, Variant ID; REF, Reference allele; ALT, Alternate allele; A1, Counted allele in logistic regression; A1_CT, Total A1 allele count; ALLELE_CT, Allele observation count; A1_CASE_CT, A1 count in cases; A1_CTRL_CT, A1 count in controls; CASE_ALLELE_CT, Case allele observation count; CTRL_ALLELE_CT, Control allele observation count; CASE_NON_A1_CT, Case genotypes with 0 copies of A1; CASE_HET_A1_CT, Case genotypes with 1 copy of A1; CASE_HOM_A1_CT, Case genotypes with 2 copies of A1; CTRL_NON_A1_CT, Control genotypes with 0 copies of A1; CTRL_HET_A1_CT, Control genotypes with 1 copy of A1; CTRL_HOM_A1_CT, Control genotypes with 2 copies of A1; A1_FREQ, A1 allele frequency; A1_CASE_FREQ, A1 allele frequency in cases; A1_CTRL_FREQ, A1 allele frequency in controls; OBS_CT, Number of samples in the regression.